Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000244597 | SCV000319018 | uncertain significance | Cardiovascular phenotype | 2013-10-29 | criteria provided, single submitter | clinical testing | The p.I364V variant (also known as c.1090A>G) is located in coding exon 9 of the DSP gene. This alteration results from a A to G substitution at nucleotide position 1090. The isoleucine at codon 364 is replaced by valine, an amino acid with highly similar properties. This variant was not reported in population-based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP) and 1000 Genomes Project.This amino acid position is well conserved in available vertebrate species.This variant is predicted to be benign by PolyPhen and tolerated by SIFT in silico analyses. Since supporting evidence is limited at this time, the clinical significance of p.I364V remains unclear. |
Stanford Center for Inherited Cardiovascular Disease, |
RCV000786304 | SCV000925069 | uncertain significance | not provided | no assertion criteria provided | provider interpretation |